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FLASH GENE
Symbol KRT1 contributors: mct/npt - updated : 04/10/2008
HGNC name keratin 1
HGNC id 6412
Corresponding disease
EHK1 epidermolytic hyperkeratosis 1
IHCM ichthyosis hystrix, Curth-Macklin type
PPKS3 keratosis palmoplantar striata III
Location 12q13      Physical location : 53.068.519 - 53.074.191
Synonym name
  • epidermolytic hyperkeratosis 1
  • keratin, type II cytoskeletal 1
  • 67 kDa cytokeratin
  • hair alpha protein
  • Synonym symbol(s) ZAPB14, KRT1A, EHK1, CK1, K1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text type II cytokeratins are clustered in a region of chromosome 12q12-q13
    STRUCTURE 5.67 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC387859 12 LOC387859 KRTHB1 12q13 keratin, hair, basic, 1 KRTHB6 12q13 keratin, hair, basic, 6 (monilethrix) KRTHB3 12q13 keratin, hair, basic, 3 KRTHBP2 12q13 keratin, hair, basic, pseudogene 2 KRTHB5 12q13 keratin, hair, basic, 5 KRTHB4 12q13 keratin, hair, basic, 4 KRTHB2 12q13 keratin, hair, basic, 2 KRTHBP1 12q13 keratin, hair, basic, pseudogene 1 K6HF 12q13 cytokeratin type II KRT6B 12q13.1-q13.2 keratin 6B KRT6E 12q13.13 keratin 6E KRT6A 12q13 keratin 6A KRT6C 12q12-q13 keratin 6C KRT5 12q13.2-q13.3 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) KRT6IRS 12q13.13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) K6IRS4 12q13.13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) K6IRS2 12q13.13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) K6IRS3 12q13.3 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) KRT2A 12q13.1-q13.2 keratin 2A (epidermal ichthyosis bullosa of Siemens) KRT1 12q13 keratin 1 (epidermolytic hyperkeratosis) LOC387860 12 similar to keratin 1b LOC341409 12q13.13 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 LOC387861 12 similar to K+ channel tetramerization protein HUMCYT2A 12q13.13 cytokeratin 2 KRT3 12q13 keratin 3 KRT4 12q13 keratin 4 KRT6L 12q13.13 keratin 6L K5B 12q13.13 keratin 5b KRT8 12q13 keratin 8 KRT18 12q13 keratin 18
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2451 66 644 - Schweizer (2006)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivepharynx    
    Lymphoid/Immunethymus    
    Skin/Tegumentskin    
    Urinarybladder    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningepidermisstratum spinosum 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a central rod domain
  • four helical domains (1A, 1B, 2A, 2B)
  • non alpha helical linkers (L1, 2, 3)
  • the homology domains H1 and H2, by variable region (V1, V2) and end sequences (E1, E2)
  • mono polymer dimer
    HOMOLOGY
    Homologene
    FAMILY
  • intermediate filament family
  • type II keratin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • also acting as a binding protein and presentation for kininogens on endothelial cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with KRT10, also with KRT9
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EHK1 , IHCM , PPKS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS